• Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Arg52Gln (c.155G>A); ClinVar=VCV000570071; Zygosity=Heterozygous (PubMed=7726158; PubMed=8940272).
  
• Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Arg335Cys (c.1003C>T); ClinVar=VCV002054912; Zygosity=Heterozygous (PubMed=7726158; PubMed=8940272).
  

PubMed=1627352; DOI=10.1016/0885-4505(92)90029-x
David S. Rosenblatt, Helena Lue-Shing, A. Arzoumanian, Lawrence Low-Nang, Nora V. Matiaszuk;
Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts.
Biochem. Med. Metab. Biol. 47:221-225(1992)

PubMed=7726158; PMCID=PMC1801446
Philippe Goyette, Phyllis Frosst, David S. Rosenblatt, Rima Rozen;
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
Am. J. Hum. Genet. 56:1052-1059(1995)

PubMed=8940272; PMCID=PMC1914869
Philippe Goyette, Benedicte Christensen, David S. Rosenblatt, Rima Rozen;
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
Am. J. Hum. Genet. 59:1268-1275(1996)

Patent=US6528259
Rima Rozen, Philippe Goyette;
Methods for detecting human methylenetetrahydrofolate reductase allelic variants.
Patent number US6528259, 04-Mar-2003